title: Patterns of malformation in children with congenital diaphragmatic defects.
abstract: The medical records of 102 live-born children with a congenital diaphragmatic defect were reviewed to determine the frequency and nature of underlying chromosomal, genetic, and nongenetic patterns of malformation. Overall, 40 children (39%) had a major nonpulmonary malformation, and 14 of these children (14%) had a previously recognized pattern of malformation. A group of 18 children (18%) with cardiac anomalies had an increased mortality rate in comparison with those children without cardiac defects (72% vs 38%). The frequency and severity of nonpulmonary abnormalities in children with congenital diaphragmatic defects suggest that examination of affected children should include cardiac evaluation, a karyotype when the defect is one feature of a broader pattern of altered development, and a careful evaluation for minor anomalies, which may provide clues to an overall diagnosis.
authors.affiliation: Department of Pediatrics, University of California, San Diego.
authors.forename: C
authors.initials: C
authors.lastname: Cunniff
authors.forename: K L
authors.initials: KL
authors.lastname: Jones
authors.forename: M C
authors.initials: MC
authors.lastname: Jones
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000453:epidemiology*; D002648:Child; D003965:Diaphragmatic Eventration / Q000150:complications* / Q000401:mortality; D006548:Hernia, Diaphragmatic / Q000150:complications / Q000401:mortality; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D015994:Incidence